Marfanoid habitus and intellectual disability: genes and variants

Genes linked to Marfanoid habitus and intellectual disability

• ARID1B: AT-rich interactive domain-containing protein 1B

  It helps SWI/SNF chromatin-remodeling complexes regulate access to developmental gene programs, especially in the nervous system. Haploinsufficiency is a major cause of Coffin-Siris syndrome and related neurodevelopmental disorders.

  1 disease-causing and 0 uncertain variants in ARID1B are linked to Marfanoid habitus and intellectual disability.

• KCNB1: Potassium voltage-gated channel subfamily B member 1

  Its delayed-rectifier current contributes to neuronal repolarization and also participates in activity-dependent signaling complexes at the membrane. De novo pathogenic variants are an important cause of developmental and epileptic encephalopathy with intellectual disability and variable seizures.

  1 disease-causing and 0 uncertain variants in KCNB1 are linked to Marfanoid habitus and intellectual disability.

• NSD1: Histone-lysine N-methyltransferase, H3 lysine-36 specific

  It regulates developmental transcription through chromatin modification, including H3K36 methylation. Haploinsufficiency causes Sotos syndrome with childhood overgrowth, characteristic facial features, and developmental delay, while somatic rearrangements occur in some leukemias.

  1 disease-causing and 0 uncertain variants in NSD1 are linked to Marfanoid habitus and intellectual disability.

Weakly linked (only a few uncertain records): ATP1A1, APOB, ARID1A, COL6A3, CREBBP, DSP, GABRA1, NF2 and 2 more.

Known disease-causing variants in Marfanoid habitus and intellectual disability

Same protein, different disease

• Coffin-Siris syndrome is also caused by ARID1B variants; they fall mostly in different places as the Marfanoid habitus and intellectual disability variants (9 disease-causing).
• Sotos syndrome is also caused by NSD1 variants; they fall mostly in different places as the Marfanoid habitus and intellectual disability variants (82 disease-causing).
• Beckwith-Wiedemann syndrome is also caused by NSD1 variants; they fall mostly in different places as the Marfanoid habitus and intellectual disability variants (3 disease-causing).

Diseases related to Marfanoid habitus and intellectual disability

• Sotos syndrome, also linked to NSD1
• Acute myeloid leukemia, also linked to NSD1
• Coffin-Siris syndrome, also linked to ARID1B
• Weaver syndrome, also linked to NSD1
• Beckwith-Wiedemann syndrome, also linked to NSD1
• Genetic developmental and epileptic encephalopathy, also linked to KCNB1
• Undetermined early-onset epileptic encephalopathy, also linked to KCNB1
• Holoprosencephaly, also linked to NSD1

Frequently asked questions

Which genes are linked to Marfanoid habitus and intellectual disability?

In CATVariant, Marfanoid habitus and intellectual disability is linked to 3 analyzed proteins: ARID1B (AT-rich interactive domain-containing protein 1B), KCNB1 (Potassium voltage-gated channel subfamily B member 1) and NSD1 (Histone-lysine N-methyltransferase, H3 lysine-36 specific).

How many genetic variants are linked to Marfanoid habitus and intellectual disability?

14 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 11 are of uncertain significance or have conflicting reports.

Which uncertain variants in Marfanoid habitus and intellectual disability look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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