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SHORT syndrome with microcephaly and developmental delay.

Viraj Patel¹, Wei Cui², Jan M Cobben^1,2

¹North West Thames Regional Genetics Service, NHS, Northwick Park & St Mark's Hospitals, London, Harrow, UK.

American Journal of Medical Genetics. Part A

|December 14, 2022

Summary

This study identifies a specific PIK3R1 gene variant linked to SHORT syndrome, causing microcephaly and developmental delays. Further research is needed to understand the exact pathogenic mechanism.

Keywords:

PIK3R1 SHORT syndrome developmental delay intellectual disability microcephaly

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Area of Science:

Genetics
Molecular Biology
Pediatrics

Background:

SHORT syndrome is a rare genetic disorder characterized by specific physical features.
Mutations in the PIK3R1 gene have been implicated in SHORT syndrome.
The inter-SH2 (iSH2) domain of PIK3R1 plays a crucial role in its function.

Approach:

Case report of a boy with SHORT syndrome and a novel PIK3R1 variant.
Literature review of previously reported cases with PIK3R1 variants and SHORT syndrome.
Analysis of genotype-phenotype correlations, focusing on variants in the iSH2 domain.

Key Points:

A de novo PIK3R1 c.1456G>A (p.Ala486Thr) variant is associated with SHORT syndrome, microcephaly, and severe developmental delay.
This variant affects codon 486 within the iSH2 domain of the PIK3R1 gene.
Similar phenotypes were observed in other reported cases with PIK3R1 iSH2 domain variants.

Conclusions:

Pathogenic PIK3R1 variants in the iSH2 domain may lead to a distinct clinical presentation of SHORT syndrome, including microcephaly and intellectual disability.
The pathogenic mechanism underlying this specific phenotype remains to be elucidated.
Further investigation into PIK3R1 variants and their impact on SHORT syndrome is warranted.