Journal of human genetics

01 8 October 2026

DOI 10.1038/s10038-026-01519-1

Genotype–phenotype variability in TRMT10A deficiency: divergent developmental outcomes associated with biallelic loss-of-function variants

Open DOI

Zeynep Esener, Dilan Genç-Akdağ, Canberk Toprak et al.

Loss-of-function variants in TRMT10A are known to cause a rare autosomal recessive disorder primarily characterized by microcephaly, short stature, and impaired glucose metabolism. However, the extent of phenotypic variability and the fa...

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02 5 October 2026

DOI 10.1038/s10038-026-01521-7

Integrated genetic and epigenetic diagnosis of facioscapulohumeral muscular dystrophy using Oxford Nanopore long-read sequencing

Open DOI

Xinrong Xu, Liangliang Qiu, Minghui Zeng et al.

Facioscapulohumeral muscular dystrophy (FSHD) is a genetically and epigenetically complex disorder in which the comprehensive characterization of the D4Z4 repeat array remains challenging. We applied Oxford Nanopore long-read sequencing ...

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03 30 September 2026

DOI 10.1038/s10038-026-01520-8

MC1R variants in four Chinese children with red hair and hypopigmentation

Open DOI

Yingzi Zhang, Qiaorong Huang, Xiaojing Chen et al.

Loss-of-function variants in the melanocortin 1 receptor (MC1R) gene are a well-established cause of red hair in European populations. However, the genetic spectrum and phenotypic effects of MC1R variants in East Asians remain poorly def...

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04 29 September 2026

DOI 10.1038/s10038-026-01518-2

Uptake of cascade testing and the factors affecting its implementation among patients in Japan with Lynch syndrome

Open DOI

Yoshimi Kiyozumi, Hiroyuki Matsubayashi, Nobuhiro Kado et al.

05 28 September 2026

DOI 10.1038/s10038-026-01515-5

Which R2 should be used to benchmark polygenic score performance against heritability?

Open DOI

Ciaran Michael Kelly

06 28 September 2026

DOI 10.1038/s10038-026-01516-4

Variable phenotypic manifestations of two splice-site variants in DNAJB2: insights from two families and a systematic review

Open DOI

Fatemeh Ghermezcheshmeh, Nazila Malekian, Aida Ghasemi et al.

07 28 September 2026

DOI 10.1038/s10038-026-01517-3

Riddle syndrome with RNF168 mutation in first Asian family cluster exhibiting pulmonary fibrosis and achalasia

Open DOI

Ting-Wei Kao, Jung-Yien Chien, Jo-Yu Chen et al.

Riddle syndrome is a rare autosomal recessive disorder caused by RNF168 mutations, characterized by radiosensitivity, immunodeficiency, and dysmorphic features. We reported the first Asian family cluster involving a homozygous RNF168 c.9...

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08 15 September 2026

DOI 10.1038/s10038-026-01513-7

Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosis

Open DOI

Zoe N. Zussa, Andrew N. Smith, Joke J.F.A van Vugt et al.

A pathogenic GGC repeat expansion in zinc finger homeobox 3 ( ZFHX3 ), encoding a pure polyglycine (polyG) tract, causes spinocerebellar ataxia type 4 (SCA4). Intermediate expansions of other SCA loci have been implicated in amyotrophic ...

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09 11 September 2026

DOI 10.1038/s10038-026-01497-4

Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy

Open DOI

Mark Mencias, Meneka Kanagaratnam, Emma Matthews

Only 14 individuals have been thus far described with GlyT1 encephalopathy due to biallelic variants in the SLC6A9 gene and the phenotypic picture is incomplete. Early mortality has been high, with only two known to survive into infancy....

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10 10 September 2026

DOI 10.1038/s10038-026-01509-3

Non-coding repeat expansions within NOTCH2NLC and RFC1 genes contribute to unsolved inherited peripheral neuropathies

Open DOI

Xin-Yun Zhang, Hao Yu, Gong-Lu Liu et al.

Non-coding GGC repeat expansions in NOTCH2NLC and AAGGG repeat expansions in RFC1 have been implicated in NIID and CANVAS, respectively. Both disorders classically present with peripheral neuropathy as an initial manifestation. This stud...

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