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Zpráva o onemocněních · Neurological

Primrose Syndrome (ZBTB20)

Whole genome sequencing reads the ZBTB20 gene for the change in one copy that causes Primrose syndrome, a condition with a large head, developmental delay and hardening of the outer ear cartilage.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

A rare condition causing a large head, developmental delay and intellectual disability, with hardening of the outer ear cartilage and other features that change with age. It is caused by a change in one copy of ZBTB20.

Primrose syndrome is a rare condition that causes a large head, low muscle tone, developmental delay and intellectual disability. Speech is often delayed, and behavioural differences, often including features of autism, are common. Distinctive facial features and hearing loss are also typical.

It is caused by a change in one copy of ZBTB20, a transcription factor important in brain development and metabolism. Where parents were tested, the changes arose new. Less often, in later life, the ear cartilage calcifies, the distal muscles waste and diabetes can develop.

Care includes developmental and educational support, speech and physical therapy, and hearing assessment. Monitoring for diabetes and thyroid problems is also part of care, as is support for behavioural concerns. Speech and developmental assessments are repeated every six months.

Onemocnění, které analyzujeme

Autozomálně dominantní

Caused by a change in one copy of ZBTB20, a transcription factor important in brain development and metabolism. Where parents were tested, the changes arose de novo.

Příznaky a projevy

A large head, low muscle tone, developmental delay and intellectual disability, often with autism or other behavioural differences. Distinctive facial features and hearing loss are common. Less often, in later life, there is calcification of the ear cartilage, wasting of the distal muscles and diabetes.

Co se diagnózou změní

Developmental and educational support, with hearing assessment, and monitoring for diabetes and thyroid problems. Where parents were tested, the changes arose de novo, so genetic counselling and parental testing guide recurrence risk.

Analyzované geny

Známé také jako

intellectual disability-cataracts-calcified pinnae-myopathy syndrome; PRIMS

MONDO:0009798OMIM 259050Orphanet 3042MedGen 162911Zdroje: [1][2][3]

Proč sekvenování celého genomu

Primrose syndrome is inherited in a dominant way, but where parents were tested the change arose new in the child. Whole genome sequencing reads the ZBTB20 gene.

Parental testing guides recurrence risk

Every reported person whose parents were tested had a new ZBTB20 change, and genetic counselling and parental testing help clarify recurrence risk. If a parent does carry the change, the risk to each sibling of inheriting it is 50%.

Regular checks for diabetes and thyroid

Fasting and after-meal blood glucose, along with haemoglobin A1c, are checked each year, and signs of thyroid problems are assessed. Hearing is also assessed annually, and growth and development are reviewed every six months.

Reference

  1. Arora V, Ferreira CR, Dua Puri R, Verma IC, 2021. Primrose Syndrome. GeneReviews
  2. Yamamoto-Shimojima K, Imaizumi T, Akagawa H, Kanno H, Yamamoto T, 2021. Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation. American journal of medical genetics. Part A
  3. Li J, Zhang C, Tian X, Zhou B, Chen X, Wang Y et al., 2024. Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature. Molecular genetics & genomic medicine

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Jeden test. Odpovědi na celý život.

Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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