Collection 08 December 2021

New genes causing rare disease

A molecular genetic diagnosis can provide crucial information on prognosis, treatment and recurrence risk. Advances in modern genomic testing have lead to an increasing number of rare disease genes being identified. This web collection makes available papers on some newly identified genetic conditions, with useful information for clinical practice.

Content

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis
- William B. Barrell
- Hadeel Adel Al-Lami
- Karen J. Liu
ArticleOpen Access1 Nov 2021 European Journal of Human Genetics
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
- Ange-Line Bruel
- Antonio Vitobello
- Laurence Faivre
Article28 Oct 2021 European Journal of Human Genetics
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
- Aafke Engwerda
- Erika K. S. M. Leenders
- Wilhelmina S. Kerstjens-Frederikse
Article30 Aug 2021 European Journal of Human Genetics
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency
- Matthew A. Lines
- Alexanne Cuillerier
- Michael T. Geraghty
Brief Communication6 Sep 2021 European Journal of Human Genetics
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis
- Bryn D. Webb
- Hilary Hotchkiss
- Lisa Satlin
Brief CommunicationOpen Access12 Apr 2021 European Journal of Human Genetics
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency
- Siying Lin
- James Fasham
- Reham Khalaf-Nazzal
Brief CommunicationOpen Access20 May 2021 European Journal of Human Genetics
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy
- Zerin Hyder
- Wim Van Paesschen
- Siddharth Banka
ArticleOpen Access18 Feb 2021 European Journal of Human Genetics
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract
- Johanna L. Jones
- Mark A. Corbett
- Kathryn P. Burdon
ArticleOpen Access19 Apr 2021 European Journal of Human Genetics
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features
- Maha S. Zaki
- Andrea Accogli
- Reza Maroofian
ArticleOpen Access24 Jun 2021 European Journal of Human Genetics
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
- Marcello Scala
- Geok Lin Chua
- David L. Silver
Article22 Jun 2020 European Journal of Human Genetics
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity
- Alexander J. M. Blakes
- Emily Gaul
- Andrew G. L. Douglas
ArticleOpen Access22 Nov 2020 European Journal of Human Genetics
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
- Meena Balasubramanian
- Alexander J. M. Dingemans
- Tjitske Kleefstra
ArticleOpen Access12 Jan 2021 European Journal of Human Genetics
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
- Shereen G. Ghosh
- Marcello Scala
- Joseph G. Gleeson
Article8 Sep 2020 European Journal of Human Genetics
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy
- Nina McTiernan
- Harinder Gill
- Thomas Arnesen
ArticleOpen Access24 Sep 2020 European Journal of Human Genetics
Homozygote loss-of-function variants in the human COCH gene underlie hearing loss
- Nada Danial-Farran
- Elena Chervinsky
- Stavit A. Shalev
Brief Communication16 Sep 2020 European Journal of Human Genetics

New genes causing rare disease

Content

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency

ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy

A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss

Search

Quick links