Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand

被引：1
|
作者：
Musgrave, Suzanne M. [1 ,2 ]
Taylor, Juliet [3 ]
Whitford, Whitney [1 ,2 ]
Garton, Alexandra [1 ,2 ]
Poquerusse, Jessie [1 ,2 ]
Hawkins, Victoria [1 ,2 ]
Port, Waiora [2 ]
Moodley, Kriebashne S. [1 ,2 ]
Monk, Ruth [4 ]
Knowles, Sarah D. [5 ,6 ]
Walker, Caroline [5 ,6 ]
Samson, Christopher [1 ,2 ]
Velzian, Lydia [1 ,2 ]
Swan, Brendan [1 ,2 ]
Love, Donald R. [7 ,15 ]
Hill, Rosamund [8 ]
Muir, Colette [9 ]
Talkowski, Michael E. [10 ,11 ,12 ,13 ,14 ]
Lowther, Chelsea [10 ,11 ,12 ,13 ]
Snell, Russell G. [1 ,2 ]
Lehnert, Klaus [1 ,2 ]
Jacobsen, Jessie C. [1 ,2 ]
机构：
[1] Univ Auckland, Sch Biol Sci, Auckland, New Zealand
[2] Univ Auckland, Ctr Brain Res, Auckland, New Zealand
[3] Auckland City Hosp, Genet Hlth Serv New Zealand, Auckland, New Zealand
[4] Univ Auckland, Dept Anat & Med Imaging, Auckland, New Zealand
[5] Univ Auckland, Ctr Longitudinal Res He Ara ki Mua, Auckland, New Zealand
[6] Univ Auckland, Growing Up New Zealand, Auckland, New Zealand
[7] Auckland City Hosp, Diagnost Genet, LabPLUS, Auckland, New Zealand
[8] Auckland City Hosp, Dept Neurol, Auckland, New Zealand
[9] Auckland City Hosp, Dev Paediat Starship, Auckland, New Zealand
[10] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA
[11] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA USA
[12] Massachusetts Gen Hosp, Dept Neurol, Boston, MA USA
[13] Harvard Med Sch, Boston, MA USA
[14] Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA
[15] Sidra Med, Pathol Genet, Doha, Qatar
来源：
JOURNAL OF THE ROYAL SOCIETY OF NEW ZEALAND | 2024年
关键词：
Neurodevelopmental conditions; genome-wide sequencing; whole genome sequencing; whole exome sequencing; diagnostic yield; self-referred; SPECTRUM DISORDERS; HERITABILITY;
D O I：
10.1080/03036758.2024.2394128
中图分类号：
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
Autism is a relatively common neurodevelopmental difference with considerable phenotypic heterogeneity impacting cognitive, sensory, and social processing, and often co-occurs with other conditions. Therefore, there is not a one-size-fits-all clinical support pathway for autistic individuals following diagnosis. DNA sequencing technology has enabled the discovery of genes causative of, or associated with, autism. Unsurprisingly, genetic heterogeneity goes hand-in-hand with the phenotypic heterogeneity for this condition; with causative genetic variation ranging from single base pair changes to complex chromosomal rearrangements in more than 100 different genes. This study captures a snapshot (201 individuals) of the autistic population (both clinically referred and self-referred) in Aotearoa New Zealand and documents a decade's research effort to refine diagnosis using a flexible and customised genome-wide sequencing approach. The diagnostic yield in this phenotypically disparate cohort was 12.9%, with an additional 15.9% of individuals harbouring 'likely causal' variants, providing the groundwork to tailor clinical, social, and educational care. Importantly, this study reveals the diagnostic utility of customised genetic screening for autism across a phenotypically diverse autistic population.
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页数：17
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