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Article

Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability.

American journal of medical genetics. Part A - 1 Apr 2021

Moirangthem Amita, Phadke Shubha R

Abstract excerpt

We describe two unrelated Indian boys with Mental retardation with language impairment with or without autistic features (OMIM#613670). Novel pathogenic variants c. 593_599 delins AGAAG and c.1556T>C in FOXP1 were identified in Patients 1 and 2, respectively by exome sequencing. The patients shared the cardinal features of significant language impairment, prominent forehead, downslanted palpebral fissures,...

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PMID: 33427368
DOI: 10.1002/ajmg.a.62083

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