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COMMENTARY 

Primary Hereditary Microcephaly: A Review 
 

Yudith Antonio1, Ernesto Lozano1, Nicole M. Garcia2, Gisela J. Izaguirre2, Abner N. Juarez2, 

Ruben M. Pena3, Jasmine N. Garza3, Elodia Ann De Los Santos3, Krystin Garza3, Lilliana D. 

Cano3, Rose Sanchez4 

 
1 3rdAnnual Junior Clinical Research Internship, South Texas Academy for Education & Training in Research, DHR Health  

   Institute for Research and Development 
2 Martin High School, Laredo, TX 
3 Cigarroa High School, Laredo, TX 
4 Benavides High School, Benavides, TX 
5 Zapata High School, Zapata, TX 

 

Received: November 2, 2023 

Accepted for publication: November 3, 2023 

Published : November 16, 2023

 
 
Introduction 
 

Microcephaly Primary Hereditary or MCPH, 

is a neurological and genetic disorder that is 

characterized by a reduced head circumference, 

growth delay, and intellectual disability.1 

Microcephaly is categorized by primary and 

secondary microcephaly.2 Primary is congenital, 

which means that the genetic disorder is present before 

birth and secondary is postnatal, meaning that it 

appears after birth or later on in life. Microcephaly is 

caused by a frameshift mutation, via insertion or 

deletion, and this mutation occurs in at least seven 

genes. There are a number of factors that may cause 

microcephaly. Microcephaly may be hereditary, with 

both parents being carriers of the genetic mutation and 

mutations causing an alteration of proteins; however, 

environmental factors, such as viral infections and 

toxins, may also play a role in the appearance of 

genetic mutations.2 There are less than 5,000 people in 

the United States affected by microcephaly.1 The rate 

of microcephaly in newborns in the United States is 

8.7 in every 10,000 births, which is very low, revealing 

how rare microcephaly is.2 The most obvious sign of 

microcephaly in newborns is the small and 

underdeveloped size of the cerebrum in the brain . This 

makes it possible for microcephaly to be diagnosed 

and become noticeable while the child is still 

developing inside the mother via ultrasound. Other 

forms of diagnosis include blood testing and  

 

 

amniocentesis. This genetic disorder is lifelong but 

can be treated based on the severity of the disease in a 

person affected. A variety of therapy techniques used 

for treating primary microcephaly include physical 

therapy, speech, alternative therapy, and a holistic 

therapy approach. The treatments being performed on 

the patients is directly proportional to their prognosis. 

The development of those affected by microcephaly 

can vary especially when considering their cognitive 

and social development. 

 

Etiology 
 

To better comprehend the etiology of MCPH, 

it must first be understood that MCPH is an inherited 

disorder that affects the autosomal chromosomes, 

pairs 1-22.3 MCPH is caused by a frameshift mutation 

or nucleotide deletion.4 An individual who inherits this 

disorder must receive a copy of the diseased gene from 

each of their parents. This mutation occurs in at least 

seven genes: ASPM, CDK5RAP, CENPJ, CEP152, 

KNL1, STIL, and WDR62.5 These microcephaly 

associated genes are highly involved in cell-cycle 

related processes such as centriole biogenesis, mitotic 

spindle organization, cell cycle checkpoint or 

chromosome segregation.  

 

The ASPM gene or abnormal spindle-like 

microcephaly-associated gene is located on 

chromosome 1.4 It is responsible for encoding proteins 

that are involved in bodily functions and processes. 



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Specifically speaking, the ASPM gene encodes 

proteins that are densely involved in brain 

development and the production of neural progenitor 

cells.4 Neural progenitor cells are nerve cells found in 

the central nervous system. They are responsible for 

restoring damage in the brain as well as interacting 

with microglia cells. An abnormality in this gene can 

result in Microcephaly Primary Autosomal Recessive 

or MCPH.5 

 

The CDK5RAP gene or regulatory subunit 

associated with protein 2, is a gene located in 

chromosome 9. The CDK5RAP gene allows the 

initiation of the cell cycle by encoding a regulator of 

CDK5 (cyclin-dependent kinase 5) activity.6 This 

occurs in phase G1 of the cell cycle where cyclins 

combine with cyclin-dependent kinase for gene 

transcription and gene translation. Additionally, 

CDK5RAP is also activated during the mitotic spindle 

checkpoint. Before proceeding towards anaphase, the 

CDK5RAP gene ensures that the duplicated 

chromosomes are properly attached to the spindle 

microtubules of each kinetochore. Mutations in this 

gene are linked to primary microcephaly.6 

 

The CENPJ or centromere protein J, is a gene 

located in chromosome 13.7 It maintains centrosome 

activity and begins microtubule disassembly during 

anaphase, the separation of sister chromatids. CEP152 

or centrosomal protein 152, is a gene located in 

chromosome 15. Similar to CENPJ, CEP152 also aids 

in centrosome function. Mutations in these genes are 

associated with Primary Microcephaly.8 

 

The KNL1 or kinetochore scaffold 1 is a gene 

located in chromosome 15. KNL1 serves as a scaffold 

protein for kinetochore-microtubule attachment and 

chromosome segregation.9 A scaffold protein binds 

with multiple proteins to relay messages between other 

cells at a faster rate. Its binding nature allows it to 

ensure that the chromosomes are correctly aligned and 

attached before the sister chromatids are pulled apart 

by the spindle microtubules (reference). Alterations in 

the gene are directly correlated with Primary 

Microcephaly and the formation of tumors.9 

 

STIL Centriolar Assembly Protein located in 

chromosome 1 is responsible for regulating the mitotic 

spindle checkpoint through the process of 

chromosome distribution.10 Although a mutation in 

this gene is associated with MCPH, more research has 

to be conducted for a better understanding. 

 

WDR62 or WD Repeat Domain 62 is a gene 

located in chromosome 19. WDR62 or WD Repeat 

Domain 62 is a gene located in chromosome 19. 

WDR62 plays a role in the growth and development of 

the brain.11 A mutation in this gene can result in 

delayed psychomotor development. 

 

Risk Factors 

 

Genetic: Protein Alteration 

 
An alteration of proteins is a related risk 

factor within Primary Microcephaly. The CTNNB1 

gene is responsible for producing a protein called B-

catenin 1. This protein has a hand in connecting 

cadherins and the actin cytoskeleton in adherent 

junctions.12 It has a vital function in preserving the 

integrity of epithelial layers and supporting adhesion, 

communication, and signaling between nearby cells. 

The Wnt signaling pathway, discovered in metazoan 

animals, is remarkably conserved. The term ‘Wnt’ 

originated from the fusion of ‘wingless’.” Drosophila 

segment polarity, a gene responsible for segment 

polarity in Drosophila, and “integrated” or ‘int-1,’ its 

vertebrate counterpart.12 Extracellular Wnt signal 

triggers various intracellular signaling cascades, such 

as the canonical (Wnt B - Catenin dependent) pathway 

and the non-canonical  (B Catenin- independent) 

pathway, which includes the Planar Cell Polarity 

pathway and the Wnt/Ca2+ pathway.12.Wnt proteins 

are crucial regulators in a diverse array of cellular 

processes, including cell fate determination, motility, 

polarity, primary axis formation, and organ 

development. Furthermore, recent research has 

revealed their involvement in stem cell renewal within 

the biologic pathway, which is essential for the 

development of embryos and the maintenance of tissue 

balance in adulthood.12 Recent studies have indicated 

that mutations resulting in the loss of CTNNB1 

function during embryonic stages are linked to 

cognitive disabilities.12 Furthermore, various 

syndromic phenotypic characteristics, including 

microcephaly, have been observed and reported in 

case studies and series.12 This alteration of the 

CTNNB1 gene must be present within both parents for 

a child to be affected and develop Primary 

Microcephaly. 

 

Viral Infection: Zika Virus (ZIKV)  

 
Notably, microcephaly has been linked to 

various infectious agents such as Toxoplasma gondii, 

cytomegalovirus, rubella virus, syphilis, herpes 

simplex virus, HIV, and Zika virus in infants at birth. 

The extent of microcephaly is determined not only by 

the particular infectious agent but also significantly by 

the gestational age when the infection takes place.2  



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Research has revealed that these pathogens 

primarily target neural progenitors.2 However, the 

precise mechanisms through which most of these 

infections lead to microcephaly remain incompletely 

understood. Nevertheless, a thorough investigation in 

this area was sparked by the high association between 

the Zika virus and its connection to congenital 

microcephaly. Numerous studies using both in vitro 

and in vivo animal models have shown that Zika virus 

infection causes NPC cell cycle arrest or increased cell 

mortality. Interestingly, research data shows that the 

expression of several genes linked to microcephaly, 

including MCPH1, ASPM, Centrosomal protein, and 

STIL, is reduced in brain tissues removed from Zika-

infected mice.2 It indicates that the microcephaly 

brought on by infection may have an effect on brain 

development by altering the expression of different 

MCPH genes. Nevertheless, it is important to 

acknowledge the direct role that infectious agents play 

in the emergence of microcephaly.2  

 

Signs and Symptoms: Primary Microcephaly 

 
Autosomal Recessive Primary Microcephaly 

is a neurological and genetic disorder that occurs 

congenitally. The most common indicator of 

Microcephaly is the presence of an undeveloped 

cerebrum. Usually, symptoms start presenting 

themselves antepartum, which is why it can be 

diagnosed during pregnancy. It is vital to remember 

that signs are dictated by the severity and 

categorization of the disability.1 Oftentimes, 

symptoms include poor appetite, which leads to 

unhealthy weight gain or weight loss. This causes 

deficient growth among the children. They also 

struggle with balance and movement. Due to joint 

deformities and a lack of motor skills, these kids are 

not able to perform tasks such as running, walking, and 

sitting. Seizures are very common amongst children 

with microcephaly as well. They develop issues such 

as speech delays, learning disabilities, sociability 

delays, and intellectual delays.24 Their brain does not 

function in the way a healthy child's brain would, 

which is why they struggle when socializing with 

other kids, learning, or trying to make decisions. 

Lastly, they also have complications with their vision 

and hearing, causing them to struggle seeing things or 

listening. As previously stated, a small head and brain 

is the most common sign of microcephaly. Dwarfism 

is not as common but is also on the list. This is when a 

person has shorter stature than what would be 

considered typical. A sloping forehead is usual in 

children with microcephaly. A lot of these children 

also have facial deformities, which are deformities that 

affect the bones and face. Joint deformities are also 

very similar and are also recurrent in children with 

MCPH. These joint deformities contribute to the 

struggle they have when it comes to simple motor 

skills. The bones do not develop as they should and 

affect their abilities.13  

 

Diagnosis  
 

Microcephaly can be diagnosed from 

approximately 18 to 22 weeks of gestation and after 

delivery. Ultrasound and MRI testing are the primary 

ways to find microcephaly in newborns and fetuses.14 

Ultrasounds are the primary source to access fetal 

growth during pregnancies. Finding microcephaly 

after birth, the provider will measure the head 

circumference, then the provider will compare it to a 

standard female or male. Microcephaly is diagnosed 

when the infant’s head circumference is more than 2 

standard deviations below the average.15 

 

Liquid Biopsies 
 

Microcephaly can also be found through 

blood samples. The tests can be run in the early stages 

of pregnancy to see if the fetus has the condition. From 

the blood samples, the doctors can also run genetic 

tests to see if there is any mutation in the genes of the 

baby or if the condition runs in the family.16  

 

Amniocentesis 
 

An amniocentesis test can be run between 15-

18 weeks of pregnancy.  A small sample of amniotic 

fluid collected from the area surrounding the baby is 

collected to test for any Zika genetic material.17 The 

test is recommended until after the 15th week to 

reduce complications that could happen if the test is 

done before that time.18  

 

Treatment  
 

Physical Therapy 
 

Microcephaly is an extremely expansive 

disorder, each case is unique. Nevertheless, cases 

could have similar symptoms. Physical therapy is 

essential and can help a patient's condition greatly by 

boosting their sense of wellbeing and, ideally, 

restoring their ability to walk. This article discussed 

various physical therapy treatments to treat 

microcephaly caused by the Zika virus.19 Trunk 

rotation techniques are the main source of therapy and 

are truly a game changer in a patient’s lives. Please 

give a short explanation of trunk rotation techniques 

here. This treatment could be applied to primary 



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microcephaly exhibiting comparable symptoms.19 

Children who suffer from this condition can gain from 

specific exercises and programs that will improve their 

motor and developmental skills.20 Trunk Rotation 

Techniques affect motor function, interact with other 

physical components and neurological systems in a 

mutually dependent manner, and are crucial for limb 

movements.20 Lacking trunk rotation processes have a 

number of negative effects, including a lack of trunk 

stability, increased muscle tone in the upper and lower 

limbs, a delay or loss of the postural reaction, and 

weakness in the trunk muscles.20 The main objective 

is to make your back muscles more flexible while also 

increasing the back's ability to rotate. Physical 

Therapy is truly an important intervention in patients 

with microcephaly. 

 

Speech Therapy 
 

Speech therapy helps individuals expand or 

gain a way to communicate. Individuals with 

microcephaly are prone to have speech delays and 

overall developmental delays.21 Accordingly, speech 

therapy is recommended  and a standard way to help 

people with microcephaly navigate their life on 

account of no known treatment.22 Not all individuals 

with microcephaly are able to communicate verbally. 

The use of other means of communication is 

implemented through the use of nonverbal 

communication. Individuals may also use sign 

language to communicate. By using and learning sign 

language individuals possess the information to be 

able to express themselves. 

 

Alternative therapies 
 

Alternative therapies provide several benefits 

and do not typically follow a traditional route, such as 

support groups in this instance fall under alternative 

therapies. These groups contain a common factor 

where they discuss a specific topic and members help 

structure their day to day lives. An advantage of 

joining a support group essentially supplies assistance, 

community, and support to children and their 

families.23 If local community support groups aren’t 

available , online support groups provide options for 

individuals with MCPH. Online support groups tend 

to cater to a variety of people with different 

backgrounds and their respective different 

experiences. 

 

Prognosis 
 

Children affected by this condition may 

experience symptoms such as hindered development, 

intellectual disability, and mobility issues.27 

Depending on the severity of microcephaly, the 

prognosis of the condition can prove fatal. Head size 

does not always necessarily tie to prognosis.13 

Symptoms will prove different for each case. Patients 

that improve do so with close monitoring and 

assistance through therapy, nutritional monitoring, and 

other supportive interventions. The physical therapies 

can help with their strength and maneuverability. 

Nutritional monitoring aids in rebuilding strength and 

energy levels, therefore helping microcephaly patients 

with growth. Prognosis for each patient differs 

depending on resources provided and severity of 

MCPH.13 

 

Lifelong Development 

 

Life Expectancy in Autosomal Recessive Primary 

Microcephaly 
 

A patient’s life expectancy significantly 

differs from person to person depending on the 

severity of their condition and several other factors 

that come into play within their diagnosis. 

Furthermore, not every case of primary microcephaly 

is entirely similar, in some occasions with the right 

care a patient with primary microcephaly can go on to 

have an ordinary life expectancy. Genetics greatly 

determines the expected lifetime of a patient because 

of the underlying conditions and complex mutations in 

the family’s medical history, often unbeknownst to 

them.15 Additionally, the symptoms vary significantly 

from patient to patient while at times being 

accompanied by a variety of developmental conditions 

and physical disabilities that impede basic capabilities. 

Consequently, the greater the gravity of this disease 

the higher the risk of impact to brain function is 

increased with the possibility of hindering lifespan.24. 

While the occurrence of microcephaly in offspring is 

a rather rare possibility, having the resources to 

provide the necessities and care a patient requires, 

leads to positive influences towards their life 

expectancy.  

 

Cognitive Development  
 

Primary microcephaly will be present in a 

patient’s brain throughout their entire lifetime. In a 

cognitive sense, this means that their conscious 

intellectual activity is impaired and the afflicted 

individuals will face difficulties in performing tasks 

that those unaffected deem as basic functions. The 

capacity for critical thinking is altered in a patient with 

primary microcephaly.5 Their lack of understanding of 

complex objectives and inept proficiency to use logic 



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sets them back from those around them. As a crucial 

skill for the intake of knowledge, memory execution 

and retainment are especially central to the cognitive 

development of the brain. This can be specifically 

troublesome during the academic years of young 

patients under the arduous demands of a school 

environment or lack thereof causing them to fall 

behind their peers.  Moreover, in a physical aspect the 

mind’s control over motor skills is inefficient meaning 

that the essential skills used in movement such as 

coordination and balance are limited, in turn affecting 

their participation in physical activities or simple tasks 

in daily life.25 

 

Social Development 
 

In a social environment, basic 

communication and interaction skills are used, but it 

can be strenuous for a patient with this 

neurodevelopmental disorder to operate as a member 

of society. Expression requires the right structure of 

words, social cues, and emotions.21 Being able to 

exchange sentences in a clear and concise manner 

while using listening skills with the appropriate 

expressions to respond effectively to someone adds to 

the stress of having this condition making patients feel 

the need to be isolated from social environments due 

to their difficulties.26 These barriers to socialization 

emphasize the need for inclusiveness and support from 

those around them.  

 

Conclusion 
 

Microcephaly Primary Hereditary otherwise 

known as MCPH is a genetic and hereditary condition 

caused by a frameshift mutation and is defined as a 

head more than two standard deviations below normal 

head circumference. The most common cause of 

MCPH is a mutation in the ASPM gene due to it 

encoding proteins involved in brain development.4 

This explains why brain development is affected. The 

severity of Primary Microcephaly determines the 

range of symptoms experienced by the afflicted. 

Symptoms vary from physical abnormalities deviating 

from what is typically seen on healthy individuals, to 

slowed development. Treatment plans are 

individualized for each patient and require constant 

monitoring and support in order to achieve the most 

positive prognosis. Life expectancy correlates to the 

severity of the patient’s microcephaly, taking into 

consideration that microcephalic patients may have 

other comorbidities. While this condition may affect 

physical, cognitive, and social development, severe 

cases demonstrate failure to thrive.  

 

 

Acknowledgements 

 
Monica Betancourt-Garcia, MD, Program Director; 

Melissa Eddy, MS, Program Manager  

 

Funding 

 
Funded by DHR Health Institute for Research & 

Development; DHR Health; Region One ESC 

GEARUP College Ready, Career Set!; Region One 

ESC GEARUP College Now, Career Connected; 

Region One ESC PATHS; Region One ESC Upward   

Bound Math & Science; Benavides ISD; and Jubilee 

Academy-Brownsville 

 

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DHR Proceedings ǀ http://dhrproceedings.org 103 2023, Vol. 2 No. S2 98-104 

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