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Microcephaly 28, primary, autosomal recessive(MCPH28)

MedGen UID:: 1794279
•Concept ID:: C5562069
•: Disease or Syndrome

Synonyms:	MCPH28; MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE

Gene (location): Gene(s) directly associated with this condition or phenotype.	RRP7A (22q13.2)

Monarch Initiative:	MONDO:0030339
OMIM®:	619453

Definition

Autosomal recessive primary microcephaly-28 (MCPH28) is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood (summary by Farooq et al., 2020). For a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). [from OMIM]

Clinical features

From HPO

Delayed speech and language development

MedGen UID:: 105318
•Concept ID:: C0454644
•: Finding

A degree of language development that is significantly below the norm for a child of a specified age.

See: Feature record | Search on this feature

Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

See: Feature record | Search on this feature

Sloping forehead

MedGen UID:: 346640
•Concept ID:: C1857679
•: Finding

Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.

See: Feature record | Search on this feature

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Abnormality of head or neck
- Sloping forehead
Abnormality of the musculoskeletal system
- Microcephaly
Abnormality of the nervous system
- Delayed speech and language development
- Intellectual disability

Recent clinical studies

Etiology

Molybdenum cofactor deficiency: A natural history.

Spiegel R, Schwahn BC, Squires L, Confer N
J Inherit Metab Dis 2022 May;45(3):456-469. Epub 2022 Mar 3 doi: 10.1002/jimd.12488. PMID: 35192225 Free PMC Article

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S
Hum Mutat 2018 Mar;39(3):319-332. Epub 2018 Jan 16 doi: 10.1002/humu.23381. PMID: 29243349

The molecular landscape of ASPM mutations in primary microcephaly.

Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG
J Med Genet 2009 Apr;46(4):249-53. Epub 2008 Nov 21 doi: 10.1136/jmg.2008.062380. PMID: 19028728 Free PMC Article

See all (3)

Diagnosis

Molybdenum cofactor deficiency: A natural history.

Spiegel R, Schwahn BC, Squires L, Confer N
J Inherit Metab Dis 2022 May;45(3):456-469. Epub 2022 Mar 3 doi: 10.1002/jimd.12488. PMID: 35192225 Free PMC Article

The molecular landscape of ASPM mutations in primary microcephaly.

See all (2)

Prognosis

Molybdenum cofactor deficiency: A natural history.

Spiegel R, Schwahn BC, Squires L, Confer N
J Inherit Metab Dis 2022 May;45(3):456-469. Epub 2022 Mar 3 doi: 10.1002/jimd.12488. PMID: 35192225 Free PMC Article

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

Waseem SS, Moawia A, Budde B, Tariq M, Khan A, Ali Z, Khan S, Iqbal M, Malik NA, Haque SU, Altmüller J, Thiele H, Hussain MS, Cirak S, Baig SM, Nürnberg P
Genes (Basel) 2021 Sep 24;12(10) doi: 10.3390/genes12101494. PMID: 34680889 Free PMC Article

See all (2)

Clinical prediction guides

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

See all (1)

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Microcephaly 28, primary, autosomal recessive(MCPH28)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Molecular resources

Consumer resources

Reviews

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