Ugrás a tartalomhoz
Használja fel HSA- vagy FSA-keretét

Betegségjelentés · Otolaryngological

Burn-McKeown Syndrome (TXNL4A)

Whole genome sequencing reads the TXNL4A gene for the changes in both copies that cause Burn-McKeown syndrome, a rare inherited condition that can block the back of the nose at birth.

A betegségjelentés olyan ritka variánsokat keres, amelyekről ismert, hogy okozzák az általa lefedett betegségeket.

A Premium és a Premium + AI csomagban benne van

A Premium első évre készletenként 99 $ díjjal jár.

Rendelés Premium csomaggal

A(z) condition ismertetése

A rare inherited condition in which the back of the nose is blocked at birth (choanal atresia), with hearing loss, heart defects and distinctive facial features. It is caused by changes in both copies of the TXNL4A gene.

Burn-McKeown syndrome is a rare inherited condition present from birth. The back of the nose is narrowed or blocked (choanal atresia), which can cause breathing difficulty in newborns and needs surgical repair. Other features include short eye openings, a gap in the lower eyelids, a prominent nose, hearing loss and sometimes heart defects. Intelligence is typically unaffected.

It is caused by changes in both copies of TXNL4A, a component of the spliceosome, the cell machinery that processes RNA. In most reported people, one change is a short deletion in the promoter, the non-coding region that controls how much of the gene is made, and the other is a different damaging change. Non-coding regions may be less completely assessed, so a negative result does not rule out the condition.

It is inherited in an autosomal recessive way. When both parents carry a change, each further child has a 1 in 4 chance of being affected. Care involves surgical repair of choanal atresia where needed, hearing assessment and hearing aids if required, eye monitoring to protect the cornea, and cardiac checks.

A vizsgált betegség

Autoszomális recesszív

Caused by changes in both copies of TXNL4A, which encodes a component of the spliceosome, the machinery that processes RNA. Most affected people have a small deletion in the TXNL4A promoter on one copy combined with a different damaging change on the other copy.

Tünetek és jelek

Choanal atresia, usually on both sides, causing breathing difficulty in newborns, together with short eye openings, a gap (coloboma) in the lower eyelids and a prominent nose. Hearing loss is common, and heart defects, cleft lip or palate and mild short stature have been reported. Intelligence is typically unaffected.

Mit változtat a diagnózis

Surgical repair of choanal atresia, hearing assessment with hearing aids where needed, and cardiac evaluation. Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected; genetic counselling and carrier testing of relatives are available.

Vizsgált gének

Más néven

bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance; BMKS; choanal atresia deafness cardiac defects dysmorphism; oculootofacial dysplasia

MONDO:0012064OMIM 608572Orphanet 1200MedGen 325265Források: [1][2][3]

Miért a teljes genom szekvenálás

Burn-McKeown syndrome is recessive, so the carrier status of parents and relatives is central to planning for future children.

A common change sits outside the coding DNA

Everyone described so far has had at least one copy of a 34 base pair deletion in the TXNL4A promoter, which lowers how much of the gene is made. Because non-coding regions may be less completely assessed, a negative result should be read with care.

Carrier testing for relatives

Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected. Genetic counselling and carrier testing of relatives are available.

Korlátok

  • In most reported people, one of the two changes is a short deletion in the TXNL4A promoter, outside the protein-coding part of the gene. Non-coding regions may be less completely assessed, so a negative result does not rule out the condition.

Hivatkozások

  1. Lüdecke HJ, Wieczorek D, 2016. TXNL4A-Related Craniofacial Disorders. GeneReviews
  2. Burn-McKeown syndrome. MedlinePlus Genetics
  3. Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D et al., 2015. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. American journal of human genetics

További otolaryngological conditions

Minden feltétel →

Egy teszt. Egy életen át tartó válaszok.

Egy csomag, házhoz szállítva. Az egész genomját a diagnosztikai döntésekhez használt klinikai színvonalon szekvenáljuk. Orvos számára is használható jelentéseit 6–8 héten belül küldjük el a Genome Manager-be. Ezek tartósan érvényesek, és a tudomány fejlődésével frissülnek.

449 $-tól

Ingyenes szállítás · Eredmények 6–8 hét alatt

A Premium első évre készletenként 99 $ díjjal jár.

Rendelés Premium csomaggal