An Adult Presentation of KIF11-Related MCLID Syndrome: Case Report and 40-Year Follow-Up.

Am J Med Genet AAug 5, 2026 (epub)
Case ReportMedical GeneticsNeurologyOphthalmology

Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat et al.

✦ AI-curated · Sources linked

Case in brief

A 42-year-old woman with severe intellectual disability had microcephaly, hypotonia, seizures, self-injurious behavior, developmental delays, ophthalmologic findings, and impaired speech and adaptive functioning. Trio whole-exome sequencing identified a de novo pathogenic KIF11 in-frame deletion (c.1294_1296del; p.Glu432del); a maternally inherited SCN3A variant was classified as of uncertain significance. Her clinical history provided a longitudinal view spanning more than four decades of KIF11-related MCLID syndrome.

What made this case unusual

The report documents an adult presentation with a longitudinal clinical perspective extending over four decades, an age range and follow-up perspective underrepresented in reports of KIF11-related MCLID.

Diagnostic / clinical pearl

Consider KIF11-related disease in adults with syndromic developmental delay and microcephaly; genetic findings should be interpreted alongside detailed phenotypic and clinical-history assessment.

Source

PubMed · PMID 42552906

Published in Am J Med Genet A. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

ShareTelegramLinkedIn

AI-generated summaries may contain errors or omissions. Verify clinically important information with the original publication.

More in Medical Genetics

Clinical ResearchPreventive Medicine / Public Health

2025 National Guidelines on the Mediterranean Diet: Executive Summary of a Joint Report by Italian Scientific Societies and the National Institute of Health Task Force on Clinical Practice Guidelines.

This systematic review and practice guideline, developed by a multidisciplinary panel using NUTRIGRADE, assessed Mediterranean diet evidence across nine health domains and one economic domain.

Nutr RevNov 12, 2026Read summary
Clinical ResearchOrthopedic Surgery

Prevention of Venous Thromboembolism after Total Hip or Knee Replacement.

This multicenter randomized comparative-effectiveness noninferiority trial compared 30 days of aspirin, warfarin, or rivaroxaban for VTE prophylaxis after elective total hip or knee arthroplasty.

N Engl J MedNov 12, 2026Read summary
Clinical ResearchAnesthesiology

Effect of discontinuing antihypertensives on perioperative hypotension in older patients before non-cardiac surgery: multicentre, randomised, double blind, controlled trial.

This multicentre, randomised, double blind, placebo controlled trial assessed whether withholding ACE inhibitors or ARBs on the morning of surgery reduces perioperative hypotension in older adults undergoing non-cardiac…

BMJNov 11, 2026Read summary

Want this personalized?

Stop searching the literature. Choose what you follow and xxcode will build your personalized medical digest.

  • Your specialties
  • Your filters and thresholds
  • Clinical Research + Case Reports, tuned separately
  • Automatic weekly delivery
  • Audio and text
Create my personalized digestSee plans

Prefer listening? Personalized audio digests are available with Pro.

Stay updated for free

Get the 3 most interesting publications in one specialty each week.

Weekly email. Unsubscribe anytime.