Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Fati Ullah KhanHammal KhanKifayat UllahShoaib Nawaznull AbdullahMuhammad Javed KhanSohail AhmedMuhammad IlyasAmjad AliImran UllahAamir SohailShabir HussainFarooq Ahmadnull FaisalRaza SufyanAmir HayatTooba HanifFatima BibiMaria HayatRehmat UllahInam Ullah KhanRaja Hussain AliMuhammad Sharif HasniHamid AliMuhammad BilalSusana PeraltaRebecca BuchertZamrud ZehriGul HassanKhurram LiaqatMuhammad ZahidKhadim ShahOuti MikitieTobias B HaackWeizhen JiSaquib A LakhaniMuhammad AnsarWasim AhmadPublished in: Clinical genetics (2024)
Skeletal dysplasias are a heterogeneous group of disorders presenting mild to lethal defects. Several factors, such as genetic, prenatal, and postnatal environmental may contribute to reduced growth. Fourteen families of Pakistani origin, presenting the syndromic form of short stature either in the autosomal recessive or autosomal dominant manner were clinically and genetically investigated to uncover the underlying genetic etiology. Homozygosity mapping, whole exome sequencing, and Sanger sequencing were used to search for the disease-causing gene variants. In total, we have identified 13 sequence variants in 10 different genes. The variants in the HSPG2 and XRCC4 genes were not reported previously in the Pakistani population. This study will expand the mutation spectrum of the identified genes and will help in improved diagnosis of the syndromic form of short stature in the local population.