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Article

Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2024

Bibi Anisa, Ji Weizhen, Jeffries Lauren, Zerillo Cynthia, Konstantino Monica, Mis Emily K, Khursheed Filza, Khokha Mustafa K, Lakhani Saquib A, Malik Sajid

Abstract excerpt

There remains a crucial need to address inequalities in genomic research and include populations from low- and middle-income countries (LMIC). Here we present eight consanguineous families from Pakistan, five with neurodevelopmental disorders (NDDs) and three with neuromuscular disorders (NMDs). Affected individuals were clinically characterized, and genetic variants were identified through exome sequencing (ES),...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39152716
DOI: 10.1002/ajmg.c.32103

Genes

ADGRG1
AP4M1
SGSH
GPAA1
METTL23
MFN2
SPG11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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