Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature

被引：0

作者：

Paschell, Peyton ^{[1
]}

Laukaitis, Christina ^{[1
,2
]}

机构：

[1] Univ Illinois, Carle Illinois Coll Med, 1818 E Windsor Rd, Urbana, IL 61802 USA

[2] Carle Fdn Hosp, Urbana, IL USA

来源：

CLINICAL CASE REPORTS | 2024年 / 12卷 / 01期

关键词：

corpus callosum hypoplasia; developmental delay; macrocephaly; NFIA-related disorder; nuclear factor I; GENE;

D O I：

10.1002/ccr3.8307

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report the first multigenerational family with NFIA-related disorder from a missense variant. This case highlights the condition's phenotypic variability and the need for genetic testing when an initial diagnosis fails to explain all symptoms.

引用

页数：7

共 21 条

[1]

[Anonymous], GeneDx

[2] UniProt: the universal protein knowledgebase in 2021 [J].

Bateman, Alex ;

Martin, Maria-Jesus ;

Orchard, Sandra ;

Magrane, Michele ;

Agivetova, Rahat ;

Ahmad, Shadab ;

Alpi, Emanuele ;

Bowler-Barnett, Emily H. ;

Britto, Ramona ;

Bursteinas, Borisas ;

Bye-A-Jee, Hema ;

Coetzee, Ray ;

Cukura, Austra ;

Da Silva, Alan ;

Denny, Paul ;

Dogan, Tunca ;

Ebenezer, ThankGod ;

Fan, Jun ;

Castro, Leyla Garcia ;

Garmiri, Penelope ;

Georghiou, George ;

Gonzales, Leonardo ;

Hatton-Ellis, Emma ;

Hussein, Abdulrahman ;

Ignatchenko, Alexandr ;

Insana, Giuseppe ;

Ishtiaq, Rizwan ;

Jokinen, Petteri ;

Joshi, Vishal ;

Jyothi, Dushyanth ;

Lock, Antonia ;

Lopez, Rodrigo ;

Luciani, Aurelien ;

Luo, Jie ;

Lussi, Yvonne ;

Mac-Dougall, Alistair ;

Madeira, Fabio ;

Mahmoudy, Mahdi ;

Menchi, Manuela ;

Mishra, Alok ;

Moulang, Katie ;

Nightingale, Andrew ;

Oliveira, Carla Susana ;

Pundir, Sangya ;

Qi, Guoying ;

Raj, Shriya ;

Rice, Daniel ;

Lopez, Milagros Rodriguez ;

Saidi, Rabie ;

Sampson, Joseph .

NUCLEIC ACIDS RESEARCH, 2021, 49 (D1) :D480-D489

[3] The nuclear factor I/A (NFIA) gene is associated with the asthma plus rhinitis phenotype [J].

Dizier, Marie-Helene ;

Margaritte-Jeannin, Patricia ;

Madore, Anne-Marie ;

Moffatt, Miriam ;

Brossard, Myriam ;

Lavielle, Nolwenn ;

Sarnowski, Chloe ;

Just, Jocelyne ;

Cookson, William ;

Lathrop, Mark ;

Laprise, Catherine ;

Bouzigon, Emmanuelle ;

Demenais, Florence .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 134 (03) :576-+

[4] CYCLIC AMPLIFICATION AND SELECTION OF TARGETS FOR MULTICOMPONENT COMPLEXES - MYOGENIN INTERACTS WITH FACTORS RECOGNIZING BINDING-SITES FOR BASIC HELIX LOOP HELIX, NUCLEAR FACTOR-I, MYOCYTE-SPECIFIC ENHANCER-BINDING FACTOR-II, AND COMP1 FACTOR [J].

FUNK, WD ;

WRIGHT, WE .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (20) :9484-9488

[5] De Novo Gene Disruptions in Children on the Autistic Spectrum [J].

Iossifov, Ivan ;

Ronemus, Michael ;

Levy, Dan ;

Wang, Zihua ;

Hakker, Inessa ;

Rosenbaum, Julie ;

Yamrom, Boris ;

Lee, Yoon-ha ;

Narzisi, Giuseppe ;

Leotta, Anthony ;

Kendall, Jude ;

Grabowska, Ewa ;

Ma, Beicong ;

Marks, Steven ;

Rodgers, Linda ;

Stepansky, Asya ;

Troge, Jennifer ;

Andrews, Peter ;

Bekritsky, Mitchell ;

Pradhan, Kith ;

Ghiban, Elena ;

Kramer, Melissa ;

Parla, Jennifer ;

Demeter, Ryan ;

Fulton, Lucinda L. ;

Fulton, Robert S. ;

Magrini, Vincent J. ;

Ye, Kenny ;

Darnell, Jennifer C. ;

Darnell, Robert B. ;

Mardis, Elaine R. ;

Wilson, Richard K. ;

Schatz, Michael C. ;

McCombie, W. Richard ;

Wigler, Michael .

NEURON, 2012, 74 (02) :285-299

[6] The human genome browser at UCSC [J].

Kent, WJ ;

Sugnet, CW ;

Furey, TS ;

Roskin, KM ;

Pringle, TH ;

Zahler, AM ;

Haussler, D .

GENOME RESEARCH, 2002, 12 (06) :996-1006

[7] ClinVar: improving access to variant interpretations and supporting evidence [J].

Landrum, Melissa J. ;

Lee, Jennifer M. ;

Benson, Mark ;

Brown, Garth R. ;

Chao, Chen ;

Chitipiralla, Shanmuga ;

Gu, Baoshan ;

Hart, Jennifer ;

Hoffman, Douglas ;

Jang, Wonhee ;

Karapetyan, Karen ;

Katz, Kenneth ;

Liu, Chunlei ;

Maddipatla, Zenith ;

Malheiro, Adriana ;

McDaniel, Kurt ;

Ovetsky, Michael ;

Riley, George ;

Zhou, George ;

Holmes, J. Bradley ;

Kattman, Brandi L. ;

Maglott, Donna R. .

NUCLEIC ACIDS RESEARCH, 2018, 46 (D1) :D1062-D1067

[8] A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder [J].

Lee, Heon-Jeong ;

Woo, Hyun Goo ;

Greenwood, Tiffany A. ;

Kripke, Daniel F. ;

Kelsoe, John R. .

JOURNAL OF AFFECTIVE DISORDERS, 2013, 145 (02) :200-207

[9] Truncating mutation in NFIA causes brain malformation and urinary tract defects [J].

Yutaka Negishi ;

Fuyuki Miya ;

Ayako Hattori ;

Kentaro Mizuno ;

Ikumi Hori ;

Naoki Ando ;

Nobuhiko Okamoto ;

Mitsuhiro Kato ;

Tatsuhiko Tsunoda ;

Mami Yamasaki ;

Yonehiro Kanemura ;

Kenjiro Kosaki ;

Shinji Saitoh .

Human Genome Variation, 2 (1)

[10]

NUCLEAR FACTOR I/A

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