Skeletal dysplasia

Gene: NEPRO

Green List (high evidence)

PMID:37294112 reported a 7-year-old girl from an Arabic-speaking community in Eastern Africa with Anauxetic dysplasia 3 and another homozygous NEPRO variant (p.Arg94Cys). She was born to consanguineous parents, who reported that their shared ancestor was of Arab descent. This patient presented with clinically relevant features not previously described in ANXD3: atlantoaxial subluxation, extensive dental anomalies, and a sagittal suture craniosynostosis resulting in scaphocephaly.

In total, four unrelated families were reported with three different homozygous variants. Hence, this gene can be promoted to green rating.

Created: 17 Jan 2024, 10:57 a.m. | Last Modified: 17 Jan 2024, 10:57 a.m.

Panel Version: 0.260

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anauxetic dysplasia 3, OMIM:618853

Publications

• 37294112

I don't know

PMIDs 26633546, 29620724: 2 families with the same homozygous missense variant, haplotype analysis confirmed the founder nature of the variant. PMID 31250547: 1 family with homozygous novel missense All 5 affected individuals have severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. They also have short metacarpals, broad middle phalanges, and metaphyseal irregularities. No functional studies.
Sources: Literature

Created: 7 May 2021, 1:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anauxetic dysplasia 3, MIM618853

Publications

• 26633546
• 29620724
• 31250547

I don't know

PMIDs 26633546, 29620724: 2 families with the same homozygous missense variant, haplotype analysis confirmed the founder nature of the variant.

PMID 31250547: 1 family with homozygous novel missense

All 5 affected individuals have severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. They also have short metacarpals, broad middle phalanges, and metaphyseal irregularities. No functional studies.
Sources: Literature

Created: 4 May 2021, 4:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anauxetic dysplasia 3, MIM618853

Publications

• 26633546
• 29620724
• 31250547