Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
A Novel Homozygous Dph1 Mutation Causes Intellectual Disability and Unique Craniofacial Features Publisher Pubmed



Sekiguchi F1 ; Nasiri J2 ; Sedghi M3 ; Salehi M3 ; Hosseinzadeh M4 ; Okamoto N5 ; Mizuguchi T1 ; Nakashima M1 ; Miyatake S1, 6 ; Takata A1 ; Miyake N1 ; Matsumoto N1
Authors

Source: Journal of Human Genetics Published:2018


Abstract

Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM-001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM603527). Only two missense DPH1 mutations have been reported to date. Here, we describe a consanguineous family with two siblings both showing developmental delay, agenesis of the corpus callosum, dysmorphic facial features, sparse hair, brachycephaly, and short stature. By wholeexome sequencing, a homozygous frameshift mutation in DPH1 (c.1227delG, p.[Ala411Argfs91]) was identified, which is likely responsible for the familial condition. The unique clinical features of the affected siblings are cleft palate and absent renal findings. © 2018 The Japan Society of Human Genetics.
Related Docs
View other Related Docs
1. A Novel Slc9a6 Mutation Associated With Christianson Syndrome in a Non-Consanguineous Iranian Family: A Case Report, International Journal of Biomedicine (2024)
2. Ellis-Van Creveld Syndrome: Report of a Case and Recurrent Variant, Journal of Gene Medicine (2020)
3. A Family With Novel X-Linked Recessive Homozygous Mutation in Anos1 (C.628_629 Del, P.1210Fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature Review, AACE Clinical Case Reports (2021)
Experts (# of related papers)
View all Related Experts
Mahmoudreza Ashrafi (2)
Ali Reza Tavasoli (2)
Other Related Docs
4. Leukoencephalopathy in Al-Raqad Syndrome: Expanding the Clinical and Neuroimaging Features Caused by a Biallelic Novel Missense Variant in Dcps, American Journal of Medical Genetics# Part A (2020)
5. Unveiling a Novel Thoc2 Mutation’S Role in X-Linked Intellectual Disability, International Journal of Biomedicine (2024)
6. Ngly1 Deficiency: Novel Variants and Literature Review, European Journal of Medical Genetics (2021)
7. A Novel Pathogenic Variant of Brat1 Gene Causes Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal, International Journal of Neuroscience (2021)
8. Infantile Systemic Hyalinosis in an Iranian Family With a Mutation in the Cmg2/Antxr2 Gene, Clinical and Experimental Dermatology (2015)
9. Autosomal Recessive Congenital Ichthyosis: Cers3 Mutations Identified by a Next Generation Sequencing Panel Targeting Ichthyosis Genes, European Journal of Human Genetics (2017)
10. Identification of Two Novel Mutations in Pkhd1 Gene From Two Families With Polycystic Kidney Disease by Whole Exome Sequencing, Current Genomics (2021)
11. The First Case Report of Kabuki Syndrome From the National Iranian Registry of Primary Immunodeficiencies, Endocrine# Metabolic and Immune Disorders - Drug Targets (2021)
12. Expanding the Clinical Phenotype Associated With the Nin Gene; Report of a Patient With Short Stature, Microcephaly and Hearing Loss, Archives of Iranian Medicine (2025)
13. The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations, Journal of Molecular Neuroscience (2020)
14. Whole Exome Sequencing Reveals a Xpnpep3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient, Iranian Biomedical Journal (2020)
15. Novel Brat1 Variant Associated With Neurodevelopmental Disorder With Cerebellar Atrophy and Seizure: Case Report and a Literature Review, Epilepsy and Behavior Reports (2024)
16. Genotype–Phenotype Correlation in a Large English Cohort of Patients With Autosomal Recessive Ichthyosis, British Journal of Dermatology (2020)
17. The Role of Thyroid Function Tests in Diagnosing Allan-Herndon-Dudley Syndrome Revisited: A Novel Iran-Based Mutation, Basic and Clinical Neuroscience (2021)
18. Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet–Biedl Syndrome, Biochemical Genetics (2025)
19. Novel Lama2 Gene Mutations Associated With Merosin-Deficient Congenital Muscular Dystrophy, Iranian Biomedical Journal (2018)
20. Identification of an Nphp1 Deletion Causing Adult Form of Nephronophthisis, Irish Journal of Medical Science (2016)