PMID- 32600122
OWN - NLM
STAT- MEDLINE
DCOM- 20201218
LR  - 20211102
IS  - 1097-6817 (Electronic)
IS  - 0194-5998 (Print)
IS  - 0194-5998 (Linking)
VI  - 163
IP  - 5
DP  - 2020 Nov
TI  - Familial Aggregation in Idiopathic Subglottic Stenosis.
PG  - 1011-1017
LID - 10.1177/0194599820935402 [doi]
AB  - OBJECTIVE: To evaluate inheritance patterns and define the familial clustering 
      rate of idiopathic subglottic stenosis (iSGS). STUDY DESIGN: Retrospective 
      observational study. SETTING: International multicenter collaborative of >30 
      tertiary care centers. METHODS: Patients with a clinically confirmed iSGS 
      diagnosis within the North American Airway Collaborative's iSGS(1000) cohort 
      consented between 2014 and 2018 were eligible for enrollment. Patient 
      demographics and disease severity were abstracted from the collaborative's iSGS 
      longitudinal registry. Pedigrees of affected families were created. RESULTS: A 
      total of 810 patients with iSGS were identified. Positive family history for iSGS 
      was reported in 44 patients in 20 families. The rate of familial clustering in 
      iSGS is 2.5%. Mean age of disease onset is 42.6 years. Of the 44 patients with 
      familial aggregation of iSGS, 42 were female and 2 were male; 13 were 
      mother-daughter pairs and 2 were father-daughter pairs. There were 3 
      sister-sister pairs. There was 1 niece-aunt pair and 2 groups of 3 family 
      members. One pedigree demonstrated 2 affected mother-daughter pairs, with the 
      mothers being first-degree paternal cousins. Inheritance is non-Mendelian, and 
      anticipation is present in 11 of 13 (84%) parent-offspring pairs. The mean age of 
      onset between parents (48.4 years) and offspring (36.1 years) was significantly 
      different (P = .016). CONCLUSION: This study quantifies the rate of familial 
      clustering of iSGS at 2.5%. Inheritance is non-Mendelian, and disease 
      demonstrates anticipation. These data suggest that there may be a genetic 
      contribution in iSGS.
FAU - Drake, Virginia E
AU  - Drake VE
AD  - Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University, 
      Baltimore, Maryland, USA.
FAU - Gelbard, Alexander
AU  - Gelbard A
AD  - Department of Otolaryngology-Head and Neck Surgery, Vanderbilt University Medical 
      Center, Nashville, Tennessee, USA.
FAU - Sobriera, Nara
AU  - Sobriera N
AD  - McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 
      Baltimore, Maryland, USA.
FAU - Wohler, Elizabeth
AU  - Wohler E
AD  - McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 
      Baltimore, Maryland, USA.
FAU - Berry, Lynne L
AU  - Berry LL
AD  - Vanderbilt Center for Quantitative Sciences, Vanderbilt-Ingram Cancer Center, 
      Nashville, Tennessee, USA.
FAU - Hussain, Lena L
AU  - Hussain LL
AD  - Vanderbilt Center for Quantitative Sciences, Vanderbilt-Ingram Cancer Center, 
      Nashville, Tennessee, USA.
FAU - Hillel, Alexander
AU  - Hillel A
AD  - Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University, 
      Baltimore, Maryland, USA.
LA  - eng
GR  - K23 DC014082/DC/NIDCD NIH HHS/United States
GR  - R01 DC018567/DC/NIDCD NIH HHS/United States
GR  - R01 HL146401/HL/NHLBI NIH HHS/United States
GR  - R21 DC017225/DC/NIDCD NIH HHS/United States
PT  - Journal Article
PT  - Multicenter Study
PT  - Observational Study
PT  - Research Support, N.I.H., Extramural
DEP - 20200630
PL  - England
TA  - Otolaryngol Head Neck Surg
JT  - Otolaryngology--head and neck surgery : official journal of American Academy of 
      Otolaryngology-Head and Neck Surgery
JID - 8508176
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Family
MH  - Female
MH  - Humans
MH  - *Inheritance Patterns
MH  - Laryngostenosis/*genetics
MH  - Male
MH  - Middle Aged
MH  - Patient Acuity
MH  - Pedigree
MH  - Retrospective Studies
PMC - PMC7809487
MID - NIHMS1659350
OTO - NOTNLM
OT  - idiopathic subglottic stenosis
OT  - laryngotracheal stenosis
COIS- Disclosures Competing interests: Alexander Hillel, Ambu, consultant fees.
EDAT- 2020/07/01 06:00
MHDA- 2020/12/19 06:00
PMCR- 2021/11/01
CRDT- 2020/07/01 06:00
PHST- 2020/07/01 06:00 [pubmed]
PHST- 2020/12/19 06:00 [medline]
PHST- 2020/07/01 06:00 [entrez]
PHST- 2021/11/01 00:00 [pmc-release]
AID - 10.1177/0194599820935402 [doi]
PST - ppublish
SO  - Otolaryngol Head Neck Surg. 2020 Nov;163(5):1011-1017. doi: 
      10.1177/0194599820935402. Epub 2020 Jun 30.