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Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.
Hussain, Syeda Iqra; Muhammad, Nazif; Shah, Shahbaz Ali; Rehman, Adil U; Khan, Sher Alam; Saleha, Shamim; Khan, Yar Muhammad; Muhammad, Noor; Khan, Saadullah; Wasif, Naveed.
Afiliación
  • Hussain SI; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Shah SA; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Rehman AU; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Khan SA; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Saleha S; Department of Computer Science and Bioinformatics, Khushal Khan Khatak University, Karak, Pakistan.
  • Khan YM; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Muhammad N; Department of Biotechnology, University of Science and Technology, Bannu, Pakistan.
  • Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Wasif N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan. saad@kust.edu.pk.
BMC Med Genomics ; 17(1): 176, 2024 Jul 02.
Article en En | MEDLINE | ID: mdl-38956580
ABSTRACT

BACKGROUND:

Intellectual disability (ID) is a neurodevelopmental condition affecting around 2% of children and young adults worldwide, characterized by deficits in intellectual functioning and adaptive behavior. Genetic factors contribute to the development of ID phenotypes, including mutations and structural changes in chromosomes. Pathogenic variants in the HCFC1 gene cause X-linked mental retardation syndrome, also known as Siderius type X-linked mental retardation. The MN1 gene is necessary for palate development, and mutations in this gene result in a genetic condition called CEBALID syndrome.

METHODS:

Exome sequencing was used to identify the disease-causing variants in two affected families, A and B, from various regions of Pakistan. Affected individuals in these two families presented ID, developmental delay, and behavioral abnormalities. The validation and co-segregation analysis of the filtered variant was carried out using Sanger sequencing.

RESULTS:

In an X-linked family A, a novel hemizygous missense variant (c.5705G > A; p.Ser1902Asn) in the HCFC1 gene (NM_005334.3) was identified, while in family B exome sequencing revealed a heterozygous nonsense variant (c.3680 G > A; p. Trp1227Ter) in exon-1 of the MN1 gene (NM_032581.4). Sanger sequencing confirmed the segregation of these variants with ID in each family.

CONCLUSIONS:

The investigation of two Pakistani families revealed pathogenic genetic variants in the HCFC1 and MN1 genes, which cause ID and expand the mutational spectrum of these genes.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Linaje / Factor C1 de la Célula Huésped / Discapacidad Intelectual Límite: Child / Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Linaje / Factor C1 de la Célula Huésped / Discapacidad Intelectual Límite: Child / Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Reino Unido