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Zpráva o onemocněních · Other

X-Linked Opitz G/BBB Syndrome

Whole genome sequencing reads the MID1 gene on the X chromosome for inherited changes that cause X-linked Opitz G/BBB syndrome, a condition that affects structures along the body's midline.

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 developmental condition mainly affecting boys, with widely spaced eyes, differences in the opening of the urethra, and abnormalities of the voice box, windpipe or oesophagus. It is caused by changes in the MID1 gene on the X chromosome.

X-linked Opitz G/BBB syndrome is a rare developmental condition that mainly affects boys. Most affected males have widely spaced eyes and hypospadias, where the urethra opens on the underside of the penis. Openings between the airway and the gullet, a gap in the voice box and cleft lip or palate can cause swallowing and breathing problems. Heart defects, an absent or small corpus callosum and developmental delay are less common.

The condition is caused by changes in the MID1 gene, which makes a protein called midline-1. This protein helps recycle other proteins so that they can be reused rather than broken down, and it attaches to the microtubules that form the cell's structural framework. Because MID1 sits on the X chromosome, the pattern is X-linked. Males who inherit a change are affected, while females who carry one often have only widely spaced eyes.

A mother who carries a change has a 1 in 2 chance of passing it on to each child, and each son who inherits it will be affected. Once a change is found in a family, carrier testing can be offered to female relatives and prenatal testing is possible. Care is shared between specialist teams, including craniofacial, urology and heart services, with early assessment of swallowing and the airway.

Onemocnění, které analyzujeme

X-vázaně recesivní

X-linked Opitz G/BBB syndrome is caused by changes in MID1 on the X chromosome, which makes a protein that controls structures along the body's midline during development. Males are mainly affected; females who carry a change often have only widely spaced eyes.

Příznaky a projevy

Widely spaced eyes and hypospadias (the urethra opening on the underside of the penis) are present in most affected males. Openings between the airway and oesophagus, a laryngeal cleft or cleft lip and palate can cause swallowing and breathing problems. Less often there are heart defects, an absent or small corpus callosum, developmental delay or anal anomalies.

Co se diagnózou změní

Early assessment of swallowing and the airway is important, with surgery for laryngeal clefts, clefts, hypospadias and heart defects as needed, and developmental support. Genetic counselling is recommended; a mother who carries the change has a 1 in 2 chance of passing it to each son, and carrier testing can be offered to female relatives.

Analyzované geny

Známé také jako

GBBB1; Opitz Bbbg syndrome, type 1; Opitz GBBB syndrome, type 1; Opitz GBBB syndrome, type I; Opitz GBBB syndrome, type I, X-linked recessive; Opitz-G syndrome, type 1; X-linked Opitz syndrome; XLOS

MONDO:0010222OMIM 300000Orphanet 306597MedGen 424842Zdroje: [1][2][3]

Proč sekvenování celého genomu

This condition follows an X-linked pattern, so a finding in one family can matter for mothers, sons and daughters. Whole genome sequencing reads the MID1 gene in the same test.

An X-linked pattern affects family planning

A mother who carries a MID1 change has a 1 in 2 chance of passing it to each child, and each son who inherits it will be affected. Carrier testing for female relatives and prenatal or preimplantation testing are possible once the change is known in the family.

Early care depends on the features present

Surgery for cleft lip or palate, hypospadias and heart defects is provided as needed, with regular hearing checks and speech therapy. A multidisciplinary team follows up the airway and swallowing, which are assessed early because breathing problems can be life-threatening.

Omezení

  • An autosomal dominant form of Opitz G/BBB syndrome also exists, and some MID1 changes are larger deletions of part or all of the gene.

Reference

  1. Meroni G, 2004. MID1-Related Opitz G/BBB Syndrome. GeneReviews
  2. Opitz G/BBB syndrome. MedlinePlus Genetics
  3. Fontanella B, Russolillo G, Meroni G, 2008. MID1 mutations in patients with X-linked Opitz G/BBB syndrome. Human mutation

Další other conditions

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